Searching for the Genes That Cause Cleft Lip and Palate

Contact Information for this Study

Dr. Andrew Lidral at the University of Iowa is doing research to find some of the genes that cause cleft lip and cleft palate. We need the DNA from many families in order to locate these genes.

•   Why are you doing this study? The goal is to understand what causes unborn babies to develop a cleft. Understanding the cause of clefting will help develop strategies to prevent clefting. Knowing the genes will also help predict who is at risk for having a baby with a cleft.
• Who can be in the study? The three inclusion criteria are below. 

1.  There must be at least 2 living family members with cleft lip, cleft palate or both, who are willing to participate. 
2.  We are interested in families who have clefts which are not associated with any other birth defect.
3.  In some cases participants must either:
     a) have already been examined by a medical geneticist, and provide a written report of the results from that visit,
                           ------- OR --------
     b) be willing and able to travel to one of the following cities to see a participating geneticist:

• Columbus, OH
• Pittsburgh, PA
• Iowa City, IA
• Oakland, CA
• Medellin, Colombia, South America
• Seattle, WA

• What are participants asked to do?

A blood sample of less than a tablespoon of blood. This can be drawn from the arm at almost any hospital near your home.
A questionnarie about your family's health and pregnancies. This can be done by telephone.
Photographs of the face. A disposible camera will be provide.
An informed consent document will need to be signed. You will have a chance to read this document before participating in the research. To learn more about informed consent click here.

In some cases an exam by a geneticist will need to be done. This can take place in one of the cities listed above if you can not provide a written report from a past genetics exam. Who needs to have an exam will be determined by the researchers depending on the information collected from the questionairre.

• Which family members will be asked to be in the study? In addition to the 2 relatives who have a cleft, we would like the parents of each person with a cleft, and any couples connecting the 2 people affected with a cleft. For example, suppose Jane and her cousin John both have a cleft. We would like to include Jane’s 2 parents, John’s 2 parents, and the pair of grandparents that Jane and John have in common. Not all of these relatives are required, but the more the better!

• How much of my time will the study take? On average, the study takes about an hour of each volunteer's time. Blood sampling usually takes around 15 minutes. The questionnaire takes about 30 minutes. The photographs take only a few minutes. The visit to one of our geneticists may take an hour or more.
• What benefits will I receive for being in the study? There are no direct benefits to you or your family from being in the study. We hope that future generations will benefit from the knowledge you help us to discover. We will offer $20 to each volunteer who completes the study.
• Will I find out the results of the study? Nobody in the study will be told results about his/her family's genes. All participants may receive a newsletter reporting the progress of the study as a whole.
• What are the risks from being in the study?
  1.   The blood draw may cause discomfort. There is a chance of bruising or rarely infection at the site of the blood draw. Fainting may occur during the collection of blood samples.
  2.   Although all records are kept confidential to the best of our ability, there is always the possibility of an inadvertent breech of confidentiality.
• Who is doing this study? The study is directed by Dr. Andrew C. Lidral, DDS, PhD, at the University of Iowa.
• Who is paying for this research? This research is funded by grants from the March of Dimes and the National Institutes of Health,.
• Why might we need to travel to one of the cities listed above?  There are geneticists in these cities who are also working on this study. They can make sure your family does not have a genetic syndrome. The primary focus of our research is non-syndromic clefting, therefore it is important to have an accurate diagnosis.
• How many families do you need? In order to locate a gene that causes clefting, we will need 100 to 200 complete families. Currently we have over 75 families who have begun the study. Therefore, every single family is extremely important.
• What will happen to my DNA? We will separate the DNA from your blood sample and analyze it in our research lab in Iowa City, IA. The DNA may be shared with other investigators, but no names will be shared. The DNA will be stored frozen indefinitely.
• Will my information be confidential? All information you give us will be kept strictly confidential. No one in your family or outside of your family will have access to this information, other than the investigators.
• What will happen if a test shows non-paternity? Neither the person involved, nor anyone in your family will be made aware of this result, and we will complete the study of your family as planned.
• How do we volunteer for the study?    Contact Amy M. Mach, study coordinator if your family would like to volunteer, or if you have any questions at all.

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